Article
Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription.
Advances in genetics - 1 Jan 2001
Berneburg M, Lehmann A R
Abstract excerpt
The genetic disorders xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD) are all associated with defects in nucleotide excision repair (NER) of DNA damage. Their clinical features are very different, however, XP being a highly cancer-prone skin disorder, whereas CS and TTD are cancer-free multisystem disorders. All three are genetically complex, with at least eight complementation...
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